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Results: 1 to 20 of 162

1.

A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.

Fujihara N, Haneishi A, Yamauchi K, Terasawa F, Ito T, Ishida F, Okumura N.

Thromb Haemost. 2010 Aug;104(2):213-23. doi: 10.1160/TH09-08-0540. Epub 2010 Jun 29.

PMID:
20589319
[PubMed - indexed for MEDLINE]
2.

A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.

Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G.

Thromb Haemost. 2001 Dec;86(6):1483-8.

PMID:
11776317
[PubMed - indexed for MEDLINE]
3.

Hypofibrinogenemia associated with a heterozygous missense mutation gamma153Cys to arg (Matsumoto IV): in vitro expression demonstrates defective secretion of the variant fibrinogen.

Terasawa F, Okumura N, Kitano K, Hayashida N, Shimosaka M, Okazaki M, Lord ST.

Blood. 1999 Dec 15;94(12):4122-31.

PMID:
10590057
[PubMed - indexed for MEDLINE]
Free Article
4.

Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.

Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.

Thromb Haemost. 2010 Nov;104(5):990-7. doi: 10.1160/TH10-03-0161. Epub 2010 Aug 30. Erratum in: Thromb Haemost. 2011 Feb 1;105(2):386.

PMID:
20806111
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Nonsense-mediated mRNA decay was demonstrated in two hypofibrinogenemias caused by heterozygous nonsense mutations of FGG, Shizuoka III and Kanazawa II.

Soya K, Takezawa Y, Okumura N, Terasawa F.

Thromb Res. 2013 Oct;132(4):465-70. doi: 10.1016/j.thromres.2013.08.010. Epub 2013 Aug 17.

PMID:
24011387
[PubMed - indexed for MEDLINE]
6.

Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia.

Homer VM, Brennan SO, Ockelford P, George PM.

Thromb Haemost. 2002 Sep;88(3):427-31.

PMID:
12353071
[PubMed - indexed for MEDLINE]
7.

In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A>G causing abnormal RNA splicing.

Terasawa F, Kamijyo Y, Fujihara N, Yamauchi K, Kumagai T, Honda T, Shigematsu S, Okumura N.

Clin Chim Acta. 2010 Sep 6;411(17-18):1325-9. doi: 10.1016/j.cca.2010.05.030. Epub 2010 May 24.

PMID:
20580695
[PubMed - indexed for MEDLINE]
8.

Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.

Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M.

J Med Genet. 2005 Sep;42(9):e57.

PMID:
16141000
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Fibrinogen Mumbai: intracellular retention due to a novel G434D mutation in the Bbeta-chain gene.

Monaldini L, Asselta R, Duga S, Peyvandi F, Ghosh K, Malcovati M, Tenchini ML.

Haematologica. 2006 May;91(5):628-33.

PMID:
16670068
[PubMed - indexed for MEDLINE]
Free Article
10.

Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.

Meyer M, Bergmann F, Brennan SO.

Blood Coagul Fibrinolysis. 2006 Jan;17(1):63-7.

PMID:
16607083
[PubMed - indexed for MEDLINE]
11.

Hypofibrinogenaemia associated with a novel heterozygous gamma289 Ala -->Val substitution (fibrinogen Dorfen).

Dear A, Brennan SO, Dempfle CE, Kirschstein W, George PM.

Thromb Haemost. 2004 Dec;92(6):1291-5.

PMID:
15583736
[PubMed - indexed for MEDLINE]
12.

[Assembly and secretion of mutant fibrinogens with variant gamma-chain C terminal region (gamma313-gamma345)].

Terasawa F, Kamijyo Y, Fujihara N, Okumura N.

Rinsho Byori. 2010 Aug;58(8):772-8. Japanese.

PMID:
20860169
[PubMed - indexed for MEDLINE]
13.

In vitro expression demonstrates impaired secretion of the gammaAsn319, Asp320 deletion variant fibrinogen.

Kani S, Terasawa F, Lord ST, Tozuka M, Ota H, Okumura N, Katsuyama T.

Thromb Haemost. 2005 Jul;94(1):53-9.

PMID:
16113784
[PubMed - indexed for MEDLINE]
14.

Paris I dysfibrinogenemia: a point mutation in intron 8 results in insertion of a 15 amino acid sequence in the fibrinogen gamma-chain.

Rosenberg JB, Newman PJ, Mosesson MW, Guillin MC, Amrani DL.

Thromb Haemost. 1993 Mar 1;69(3):217-20.

PMID:
8470043
[PubMed - indexed for MEDLINE]
15.

Novel Aalpha chain truncation (fibrinogen Perth) resulting in low expression and impaired fibrinogen polymerization.

Homer VM, Mullin JL, Brennan SO, Barr A, George PM.

J Thromb Haemost. 2003 Jun;1(6):1245-50.

PMID:
12871326
[PubMed - indexed for MEDLINE]
16.

Fibrinogen St. Gallen I (gamma 292 Gly--> Val): evidence for structural alterations causing defective polymerization and fibrinogenolysis.

Stucki B, Schmutz P, Schmid L, Haeberli A, Lämmle B, Furlan M.

Thromb Haemost. 1999 Feb;81(2):268-74.

PMID:
10064005
[PubMed - indexed for MEDLINE]
17.

Fibrinogen Matsumoto II: gamma 308 Asn-->Lys (AAT-->AAG) mutation associated with bleeding tendency.

Okumura N, Furihata K, Terasawa F, Ishikawa S, Ueno I, Katsuyama T.

Br J Haematol. 1996 Sep;94(3):526-8.

PMID:
8790154
[PubMed - indexed for MEDLINE]
18.

Hypofibrinogenemia in an individual with 2 coding (gamma82 A-->G and Bbeta235 P-->L) and 2 noncoding mutations.

Brennan SO, Fellowes AP, Faed JM, George PM.

Blood. 2000 Mar 1;95(5):1709-13.

PMID:
10688828
[PubMed - indexed for MEDLINE]
Free Article
20.

Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.

Castaman G, Giacomelli SH, Duga S, Rodeghiero F.

Haemophilia. 2008 May;14(3):630-3. doi: 10.1111/j.1365-2516.2008.01692.x. Epub 2008 Apr 3. No abstract available.

PMID:
18393984
[PubMed - indexed for MEDLINE]

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